Occasionally, I talk about this when I’m giving a talk on science literacy, and most often, I’ll present the following statement asking if it’s true or false:

There is a human disease characterized by uncontrollably messy hair. It is called the “uncombable hair syndrome.”

Anyway, it’s true and the disorder is also known as Pili trianguli et canaliculi

Basically, a genetic syndrome affecting the structure of one of the proteins in the hair follicle. Results in literally uncombable hair (hence the name).

An abstract from Pediatr Dermatol. 2007 Jul-Aug;24(4):436-8.

A 4-year-old boy was noted to have unruly, spangled hair, which could not be combed flat. His mother reported that his hair had always had that texture and that it seemed to grow slowly. A hair pull test demonstrated that hairs could not be easily extracted, and light microscopic examination of the hair revealed pathognomonic characteristics of uncombable hair syndrome, including a triangular cross-sectional shape and canal-like longitudinal depressions.

Note that apart from the surreallness of such a disorder, I often use this talking point to bring up the following notions:

1. That there are a lot of crazy ass diseases out there (genetic or otherwise).

2. That from a therapeutic point of view, you need to look at the market value of finding a cure, before the whole finding a cure process to the start (i.e. do you think a lot of places are looking at treating uncombable hair syndrome?) Plus, if you take that question further, you can start getting into the arena of neglected diseases.

Here’s a slide graphic that works well with that transition.

And here is the basic appeal behind the issue of neglected diseases (from researchappeal.org)

* Every day over 35,000 people die from infectious diseases such as AIDS, malaria, tuberculosis, and most neglected diseases such as leishmaniasis, Chagas disease and sleeping sickness.

And, just to bring it back around full circle, from Wikipedia’s article on Vaniqa:

Eflornithine (Î±-difluoromethylornithine or DFMO) is a drug manufactured by Sanofi-Aventis which has various uses. It was initially developed for cancer treatment, but while having little use in treating malignancies, it was found to be highly effective in African trypanosomiasis (sleeping sickness), especially the West African form (Trypanosoma brucei gambiense)…A recent study (reported 2008) conducted by UC Irvine researchers indicates that, when combined with sulindac (an anti-inflammatory drug), DFMO significantly reduces the risk of recurring colorectal polyps…Supplies of eflornithine are limited as its manufacturer does not consider it cost effective. Its production was halted by its manufacturer, Aventis, in 1995 because the company did not consider it a profitable drug. The disease mainly affects poor people unable to pay for any sort of treatment…Eflornithine is also an effective hair growth inhibiting agent. As a topical application, the drug has been shown to be an effective hair growth retardant in some patients, and is sold under the brand name Vaniqa (eflornithine hydrochloride 13.9%). Efficacy data submitted to Food and Drug Administration (FDA) observed about 58% of women using it on facial hair had improvement. This study suggested it may be particularly effective in postmenopausal women…It is partly the development of the hair removal market that encouraged Aventis to re-start the manufacture of eflornithine, and which allowed it to once again become available for use in sleeping sickness.

Assuming there’s no seriously negative side-effects of ‘uncombable’ hair (and if any were mentioned in the post above please excuse me, I didn’t have the patience to read the whole thing), why call it a ‘disease’ and a ‘disorder’? Jeez. That’s just disturbing to me. What’s the big deal?

I think the issue is not so much the problem itself (ACHOO syndrome would be another example) but whether it’s a fellow-traveler with a more significant problem. As an example (though it’s more autoimmune than genetic), take the link between psoriasis and certain forms of rheumatoid arthritis — psoriasis in and of itself is somewhat disfiguring but mostly just annoying, but when the autoimmune attack spreads to the joints, the ensuing arthritis is a serious, potentially crippling problem.

“Is the freedom to give voluntary donations to charities which conduct research into neglected diseases not considered a free market solution?”

Manifestly, since people have that freedom and the problems are not solved, it is not a solution. (And even if some problem was solved via charity, it would not be a market solution.)

Of course it might occasionally happen that some super-rich person might, on a generous whim, give enough money to supply the poor of the world with the drug, or whatever, that they need but can’t afford, or they might give toward research into some rare and non-glamorous disorder (because they, or someone they love suffer from it, or even just on a whim), but clearly this sort of thing is the exception rather than the rule.

When the free market does solve problems it solves them because the logic of the market makes it inevitable. The whole point of free market solutions is that they do not depend on the affections and whims of individuals. That is what supposedly makes them better than planned, command economies; but for lots of problems they just do not work, and this is one sort of example.

While I may or may not have this syndrome, I can attest that my hair is indeed quite uncombable. It insists on standing straight out from my head in all directions. No matter how much hair spray or mousse I use, it invariably stands up after a short time. Then, instead of standing up in a glorious mane of fringe, it clumps together in spikes.

To combat this, I now wear my hair no longer than half an inch, and have for the past 15 years or so. One of the more interesting phenomenon associated with my particular condition is the tendency of my hair to wick water or sweat to the ends of each strand, where it forms into tiny droplets that catch the light.

Did you know that 90% of all new medicines are discovered by the pharmaceutical industry (Journal of Health Economics, The Price of Innovation: New Estimates of Drug Development Costs, 2003)? Only 3 in 10 of the medicines provide returns on the development investments, and of millions of compounds screened for approval, only 250 of these enter precilinical testing, 5 enter clinical testing, and 1 of those millions will actually be approved. You can see that the cost of R&D here is extravagant (Pharmaceutical Research and Manufacturer’s of America (PhRMA) 2003 Pharmaceutical Industry Profile).

Jes,
Your comment was obviously made out of ignorance. I would love for you to have this hair for a week and say that it is no big deal at the end of that week. Or maybe you could be an albino. No big deal, just missing a pigment right? There are many disorders that aren’t life threatening and seemingly are no big deal. Yet they are considered a disorder because they aren’t normal. My granddaughter has uncombable hair syndrome. Everywhere we go in public we are asked the same questions and listen to the same rude comments. It’s people like you who are lacking empathy that make the most hurtful comments. This hair disorder affects the structure of one of the proteins in the hair follicle. The result is every strand of hair is kinked from scalp to end. It is dull, course, and very dry, with little or no pigment, odd texture, and it’s irregular in length. There can also be tooth, and fingernail anomalies. It is very similiar to Menekes-these children have distorted facial features and more serious conditions than a cosmetic issue. I’m sure you couldn’t even finish reading this. But if you did I hope you learned something.

I have this syndrome. In some rare cases you do NOT grow out of it. The only difference from childhood to adulthood was that the very light blonde became auburn and the “spun glass” texture became normal. My solution to the problem is to keep my hair long so it is weighed down and quite combable. If I cut my hair short it stands on end in all different directions and can not be made to lie flat.